Patau syndrome with a long survival (146 months): A clinical report and review of literature

Iliopoulos, Dimitrios; Sekerli, Eleni; Vassiliou, Georgia; Sidiropoulou, Vasiliki; Topalidis, Augerinos; Dimopoulou, Despina; Voyiatzis, Nikolaos

doi:10.1002/ajmg.a.31056

Cited by 25 publications

(22 citation statements)

References 8 publications

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“…It is no longer sufficient to only review mortality data. Few studies describe long‐term survivors and identify varying medical and therapeutic interventions [Duarte et al, 2004; Iliopoulos et al, 2006]. There are also ethical questions raised by this population.…”

Section: Discussionmentioning

confidence: 99%

“…In another study of 70 infants, median survival was 7 days and only approximately 10% lived past 12 months of age [Rasmussen et al, 2003]. These and other site‐specific or population‐based investigations [Goldstein and Nielsen, 1988; Nembhard et al, 2001; Brewer et al, 2002; Cleves et al, 2003; Forrester and Merz, 2003; Crider et al, 2008; Vendola et al, 2010; Irving et al, 2011] describe brief life spans while case studies generally offer more positive outcomes [e.g., Singh, 1990; Zoll et al, 1993; Sweeney and Pelegano, 2000; Tunca et al, 2001; Iliopoulos et al, 2006]. In a sample of 11, Hsu and Hou [2007] found median survival was 95 days including a 7‐year‐old.…”

Section: Introductionmentioning

confidence: 99%

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Birth history, physical characteristics, and medical conditions in long‐term survivors with full trisomy 13

Bruns

2011

American J of Med Genetics Pt A

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The purpose of the study is to provide data about long-term survivors with full trisomy 13 (t13). Mothers of 30 long-term survivors with full t13 completed an online survey. Survey data were downloaded into an SPSS database. Descriptive statistics were used to analyze survey data. Tracking Rare Incidence Syndrome (TRIS) Survey data on survival, birth information including maternal and paternal age at conception, physical characteristics, and medical conditions were compared. Data indicate longer mean survival rates (48.4 months for those living at the time of data collection, 40.8 months for those who died prior) than described in the literature. Means for gestations age, birth weight, and length are 38.11 weeks, 2,789.34 g and 48.45 cm, respectively. Long-term survivors presented with syndrome-related physical characteristics (e.g., low-set ears, cleft lip and palate) and medical conditions (e.g., ventricular septal defect (VSD), feeding difficulties). We conclude that data indicate longer survival and a range in birth information (gestational age, birth weight, and length) along with presence of common presenting physical characteristics and medical conditions of long-term survivors with full t13.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Birth history, physical characteristics, and medical conditions in long‐term survivors with full trisomy 13

Bruns

2011

American J of Med Genetics Pt A

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“…In general, the use of three or four highly polymorphic STR markers per chromosome allows a high diagnostic accuracy in the majority of samples (13). Although the incidence of Patau syndrome is less than that of trisomy 21 (Down syndrome) and trisomy 18 (Edwards syndrome), there have been a number of patients with trisomy 13 who have survived past the first decade, even reaching 146 months (14). Furthermore, few papers have reported the application of the QF-PCR method in detecting trisomy 13 or investigated the polymorphisms of STR markers on chromosome 13.…”

Section: Discussionmentioning

confidence: 99%

Genetic polymorphisms of short tandem repeat loci D13S305, D13S631 and D13S634 in the Han population of Tianjin, China

Shi

et al. 2015

Experimental and Therapeutic Medicine

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Abstract. Short tandem repeat (STR) markers, also known as microsatellites, are extensively used in mapping studies, forensics and disease diagnosis due to their small dimension and low mutation and high polymorphism rates. In recent years quantitative fluorescence polymerase chain reaction (QF-PCR) has been successfully used to amplify STR markers in the prenatal diagnosis of common chromosomal abnormalities. This method provides a diagnosis of common aneuploidies 24-48 h after sampling with low error rates and cost; however, the size of different alleles, frequency, heterozygosity and distribution of STR markers vary among different populations. In the present study three STR markers, D13S305, D13S631 and D13S634, on chromosome 13 were analyzed in 350 unrelated individuals (200 males and 150 females) from the Han population of Tianjin, China using QF-PCR. Eleven, seven and 11 alleles of each marker were observed, respectively. The frequencies of the genotypes were in good agreement with Hardy-Weinberg equilibrium (P>0.05). The results showed that these three STR markers were highly polymorphic in the Han population of Tianjin, China. The study has provided basic data for use in the prenatal diagnosis of Patau syndrome.

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“…If severe structural malformations such as holoprosencephaly or congenital heart disease are not present, then longer survival appears possible, but still infrequent. 67 …”

Section: Trisomy 13 (Patau Syndrome)mentioning

confidence: 99%

Antenatal diagnosis and management of life-limiting conditions

Breeze¹,

Lees²

2013

Seminars in Fetal and Neonatal Medicine

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Patau syndrome with a long survival (146 months): A clinical report and review of literature

Cited by 25 publications

References 8 publications

Birth history, physical characteristics, and medical conditions in long‐term survivors with full trisomy 13

Birth history, physical characteristics, and medical conditions in long‐term survivors with full trisomy 13

Genetic polymorphisms of short tandem repeat loci D13S305, D13S631 and D13S634 in the Han population of Tianjin, China

Antenatal diagnosis and management of life-limiting conditions

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